|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Colorectal cancer in Lynch syndrome associated with PMS2 and MSH6 mutations.
|
31845022 |
2020 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic MSH6 variants caused a sex-limited trait with high endometrial cancer risk but only modestly increased colorectal cancer risk in both genders.
|
31337882 |
2020 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Immunohistochemistry (IHC) for DNA mismatch repair proteins MLH1, PMS2, MSH2, and MSH6 is used for microsatellite instability (MSI) screening in colorectal carcinoma (CRC) and endometrial carcinoma (EC).
|
31402167 |
2020 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We aim to better understand MSH6 staining heterogeneity in colorectal cancer by comparative sequencing of different tumor areas for MMR and DNA polymerase mutations.
|
31783044 |
2020 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
No CRC was found in patients with variants in MSH6 or PMS2 over the entire follow-up period.
|
31470178 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation.
|
30723092 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability.
|
31386297 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Overall, 15% (7/50) of microsatellite instability high endometrial carcinomas showed isolated loss of MSH6 in contrast to 7% (1/15) seen in microsatellite instability high colorectal carcinomas.
|
30443012 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
After filtering, 15 pathogenic germline variants (9.9%) were found in 15 patients, arising from 9 genes of varying penetrance for colorectal cancer (APC (n = 2; 13%), ATM (n = 1; 6%), BRCA1 (n = 2; 13%), CDH1 (n = 2; 13%), CHEK2 (n = 4; 27%), MSH2 (n = 1; 7%), MSH6 (n = 1; 7%), NF2 (n = 1; 7%), and TP53 (n = 1; 7%)).
|
30730459 |
2019 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We examined 118 Japanese patients (236 tumors) with synchronous CRC and 117 Japanese patients (117 tumors) with solitary CRC with immunohistochemical staining for TP53 and mismatch repair (MMR) protein (MLH1, MSH2, PMS2, and MSH6) and mutation analyses of KRAS and BRAF genes.
|
28877066 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
The present study examined the expression of certain MMR proteins [namely, MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), MutS homolog 6 (MSH6) and PMS1 homolog 2 (PMS2)] in patients with stage II and III sporadic CRC.
|
29849807 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome.
|
29120461 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
We have developed and validated for the diagnosis of inherited colorectal cancer (CRC) a massive parallel sequencing strategy based on: (i) fast capture of exonic and intronic sequences from ten genes involved in Mendelian forms of CRC (MLH1, MSH2, MSH6, PMS2, APC, MUTYH, STK11, SMAD4, BMPR1A and PTEN); (ii) sequencing on MiSeq and NextSeq 500 Illumina platforms; (iii) a bioinformatic pipeline that includes BWA-Picard-GATK (Broad Institute) and CASAVA (Illumina) in parallel for mapping and variant calling, Alamut Batch (Interactive BioSoftware) for annotation, CANOES for CNV detection and finally, chimeric reads analysis for the detection of other types of structural variants (SVs).
|
29967336 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
|
29575718 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Twenty-nine patients (52.7%) developed CRC and extra-colonic tumors; of these, 15 patients (48.3%) had mutations in MLH1, 10 (58.8%) in MSH2, and 4 (57.1%) in MSH6.
|
29672549 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Compared with CRCs in the general population, t-CRCs had a higher MSI frequency (24% vs 11%, p=0.003) and more frequent loss of MSH2/MSH6 staining (13% vs 1%, p<0.001).
|
29439113 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thereafter, to confirm the accuracy of this assay, we examined 317 colorectal cancer (CRC) specimens, comprising of 105 dMMR [45 MutL homolog (MLH)1-deficient, 45 MutS protein homolog (MSH)2-deficient, and 15 MSH6-deficient tumors] and 212 MMR-proficient (pMMR) tumors as a test set.
|
29329588 |
2018 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although not statistically significant, none of the MSH6 gene mutation carriers were diagnosed with metachronous CRC.
|
27766559 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this study, we confirmed that MSH2, MLH1, and MSH6 contribute to CRC susceptibility.
|
27468915 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to determine the relationship between gene polymorphism Glu39Gly (c.116G>A) of the hMSH6 gene and the modulation of the risk of sporadic colorectal cancer in the Polish population.
|
29442465 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Of 322 CRCs, 33 cases were found to be deficient-MMR; 22 of these had concurrent loss of MLH1 and PMS2, followed by concurrent loss of MSH2 and MSH6 in 8 CRCs.
|
28646840 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
The MSH2-independent, Ki-67-related expression of MSH6 in colorectal carcinoma helps to explain the heterogeneous MSH6 staining in MSS colorectal carcinoma with or without neoadjuvant therapy.
|
28232158 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2.
|
28528517 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
Biomarker
|
disease |
BEFREE |
Notably, in both MSI-H and MSS CRC, CD274<sup>IC</sup> and CD274<sup>IP</sup> were independently associated with improved prognosis (P < 0.05), while BRAF mutation was associated with CD274<sup>TP</sup>, poor differentiation, sporadic type, and hMLH1(-)/hMSH2(+)/hMSH6(+)/PMS2(-) in MSI-H CRC (P < 0.006).
|
28405764 |
2017 |
|
Colorectal Carcinoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It is of note that mucinous tumour is one of the frequent histological features of colorectal cancer (CRC) in Lynch syndrome (LS), an autosomal dominantly inherited disease caused by a germline mutation of the DNA mismatch repair (MMR) genes including human mutL homolog 1 (MLH1), human mutS homolog 2 (MSH2), human mutS homolog 6 (MSH6), and postmeiotic segregation increased 2 (PMS2).
|
27938333 |
2016 |